Disorders


 

Limb-Girdle Muscular Dystrophy Type 2J


Synonym(s): LGMD 2J, LGMD2J

 

OMIM

GeneLocusProtein
TTN2q31Titin

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of select exons
HIBM Research Group - Reseda, CA, USA• Sequence analysis of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of select exons
• Deletion/duplication analysis
 
Ruhr University, Human Genetics - Bochum, Germany• Sequence analysis of select exons
 

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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